A Non-Interventional Study of Clinical Characteristics and Mortality of US Patients With Fibrodysplasia Ossificans Progressiva (FOP)

Clinical Characteristics and Mortality in Patients With Fibrodysplasia Ossificans Progressiva (FOP): A Non-Interventional US National Retrospective Cohort

Primary Objective(s):

• To describe the demographic characteristics of people living with FOP and a matched cohort of non-FOP people living in the United States (U.S.)
• To describe the prevalence of clinical characteristics of interest and the use of key medications in people living with FOP and a matched cohort of non-FOP people living in the U.S.
• To compare the prevalence of key clinical characteristics and medication use in people living with FOP to a matched cohort of non-FOP people living in the U.S.
• To estimate the crude mortality rate among people living with FOP

Study Overview

• Status: Completed
• Conditions: Fibrodysplasia Ossificans Progressiva (FOP)
• Intervention / Treatment: Other: Non-Interventional

• Study Type: Observational
• Enrollment (Actual): 131

Contacts and Locations

Study Locations

• United States
  • New York
    • Tarrytown, New York, United States, 10591
      • Regeneron

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Child; Adult; Older Adult
• Accepts Healthy Volunteers: No

• Sampling Method: Non-Probability Sample

Study Population

FOP Cohort(s):

The International Fibrodysplasia Ossificans Progressiva Association (IFOPA) membership has 235 confirmed people living with FOP in the US. From this membership database, there were 131 members or next of kin of members who opted-in to allow for the tokenization of their membership data to occur.

Comparator Cohort:

A random sample of 100,000 people from an insured population without FOP diagnosis living in the U.S. and matched to the FOP population.

Description

Inclusion Criteria:

FOP Cohort(s):

1. Living with FOP in the United States who have been identified from the IFOPA membership database
2. Confirmed FOP diagnosis through IFOPA membership database will be tokenized and linked with HealthVerity's medical claims data, pharmacy claims data, laboratory data and obituary data, as defined in the protocol

Comparator Cohort:

1. People without FOP living in the U.S. randomly sampled from HealthVerity's closed medical claims data and matched to the FOP population
2. Index date are defined as each person's cohort entry date. People may exit and re-enter the cohort, with the period during which they were not in the cohort excluded from the analysis
3. The comparator cohort will be matched to the cohort of people with FOP on the following variables: age, sex, insurance type and first index date

Exclusion Criteria:

1. Failure to meet inclusion criteria

Study Plan

How is the study designed?

Number of groups / cohorts

2

Cohorts and Interventions

Group / Cohort	Intervention / Treatment
FOP Cohort; Sub-Cohort 1: All patients with active enrollment (closed claims) during part or all the study period (2018-2023) Sub-Cohort 2: All patients with both active enrollment (closed claims) and open claims encounters during study period (2018-2022)	Other: Non-Interventional; No study treatment will be administered in this study.
Comparator Cohort; All individuals without FOP and with active enrollment (closed claims) during part or all of the study period (2018-2023)	Other: Non-Interventional; No study treatment will be administered in this study.

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Demographic characteristics		Up to 5 years
Prevalence of cardiovascular disease		Up to 5 years
Prevalence of metabolic disease		Up to 5 years
Prevalence of hematology disease		Up to 5 years
Prevalence of infection		Up to 5 years
Prevalence of respiratory disease		Up to 5 years
Prevalence of reproductive disease		Up to 5 years
Prevalence of neurologic disorders		Up to 5 years
Prevalence of skeletal disorders		Up to 5 years
Prevalence of gastrointestinal disease		Up to 5 years
Prevalence of dermatologic disorders		Up to 5 years
Prevalence of neoplasms		Up to 5 years
Prevalence of hearing loss		Up to 5 years
Average number of dispensations per FOP patient per year		Up to 5 years
Cumulative number of dispensations per FOP patient		Up to 5 years
Incidence of all-cause death	FOP Sub-Cohorts 1 and 2 Only	Up to 5 years

Collaborators and Investigators

• Sponsor: Regeneron Pharmaceuticals
• Investigators: Study Director: Clinical Trial Management, Regeneron Pharmaceuticals

Study record dates

Study Major Dates

• Study Start (Actual): June 29, 2023
• Primary Completion (Actual): September 22, 2023
• Study Completion (Actual): September 29, 2023

Study Registration Dates

• First Submitted: September 11, 2023
• First Submitted That Met QC Criteria: September 26, 2023
• First Posted (Actual): October 3, 2023

Study Record Updates

• Last Update Posted (Actual): July 3, 2025
• Last Update Submitted That Met QC Criteria: June 30, 2025
• Last Verified: June 1, 2025

More Information

Terms related to this study

• Keywords: Genetic disease; Skeletal dysplasia; Heterotopic ossification (HO); Activin A receptor, type I (ACVR1)
• Additional Relevant MeSH Terms: Musculoskeletal Diseases; Muscular Diseases; Myositis; Myositis Ossificans
• Other Study ID Numbers: R2477-FOP-2143

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No